Výsledky vyhledávání - "Benhamin I, Rubin"

The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1

Autor: Ruth M, Liberfarb, Howard P, Levy, Peter S, Rose, Douglas J, Wilkin, Joie, Davis, Joan Z, Balog, Andrew J, Griffith, Yvonne M, Szymko-Bennett, Jennifer J, Johnston, Clair A, Francomano, Ekaterina, Tsilou, Benhamin I, Rubin

Publikováno v: Genetics in Medicine. 5:21-27

Purpose: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative COL2A1 mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823310c5a4c34381aa8c99506fc4df1b
https://doi.org/10.1097/00125817-200301000-00004

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